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Bardet-Biedl syndrome 2
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| Identifiers | ||||||||||||||
| Symbols | BBS2; BBS; MGC20703 | |||||||||||||
| External IDs | OMIM: 606151 MGI: 2135267 HomoloGene: 12122 | |||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 583 | 67378 | ||||||||||||
| Ensembl | ENSG00000125124 | ENSMUSG00000031755 | ||||||||||||
| Uniprot | Q9BXC9 | Q8C1M6 | ||||||||||||
| Refseq | NM_031885 (mRNA) NP_114091 (protein) |
NM_026116 (mRNA) NP_080392 (protein) |
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| Location | Chr 16: 55.08 - 55.11 Mb | Chr 8: 96.96 - 96.99 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Bardet-Biedl syndrome 2, also known as BBS2, is a human gene.[1]
This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 2. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation.[1]
References
Further reading
- Kwitek-Black AE, Carmi R, Duyk GM, et al. (1994). "Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.". Nat. Genet. 5 (4): 392–6. doi:. PMID 8298649.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548.
- Beales PL, Reid HA, Griffiths MH, et al. (2001). "Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome.". Nephrol. Dial. Transplant. 15 (12): 1977–85. PMID 11096143.
- Nishimura DY, Searby CC, Carmi R, et al. (2001). "Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).". Hum. Mol. Genet. 10 (8): 865–74. PMID 11285252.
- Katsanis N, Ansley SJ, Badano JL, et al. (2001). "Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.". Science 293 (5538): 2256–9. doi:. PMID 11567139.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:. PMID 12477932.
- Badano JL, Ansley SJ, Leitch CC, et al. (2003). "Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.". Am. J. Hum. Genet. 72 (3): 650–8. PMID 12567324.
- Beales PL, Badano JL, Ross AJ, et al. (2003). "Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.". Am. J. Hum. Genet. 72 (5): 1187–99. PMID 12677556.
- Badano JL, Kim JC, Hoskins BE, et al. (2003). "Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.". Hum. Mol. Genet. 12 (14): 1651–9. PMID 12837689.
- Hoskins BE, Thorn A, Scambler PJ, Beales PL (2004). "Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.". Hum. Mutat. 22 (2): 151–7. doi:. PMID 12872256.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:. PMID 14702039.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:. PMID 15489334.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:. PMID 16189514.
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